Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071708 | SCV001237026 | pathogenic | Duchenne muscular dystrophy | 2022-02-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu2208*) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 864502). This premature translational stop signal has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 31719299). This variant is not present in population databases (gnomAD no frequency). |